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Homologous recombination deficiency gene panel analysis results in synchronous endometrial and ovarian cancers.
Rev Assoc Med Bras (1992)
October 2024
Gazi University, Faculty of Medicine, Department of Gynaecologic Oncology - Ankara, Turkey.
Article Synopsis
- The study aimed to investigate genetic changes in tumors from patients with synchronous endometrial ovarian cancer, using next-generation sequencing over a period of 5 years.
- DNA was extracted from preserved tissue samples, and sequencing was performed with advanced techniques to identify mutations in several key genes linked to cancer.
- Results showed a high prevalence of likely pathogenic or pathogenic mutations in genes like ATM and BRCA2 in both endometrial and ovarian tissues, confirming significant genetic alterations in most cases of synchronous cancer.
synapsis: A Bioconductor Package to Automate the Analysis of Meiotic Double-Strand Break Repair and Crossover Formation.
Methods Mol Biol
August 2024
DNA Repair & Recombination Laboratory, St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
Immunofluorescent staining is commonly used to generate images to characterize cytological phenotypes. The manual quantification of DNA double-strand breaks and their repair intermediates during meiosis using image data requires a series of subjective steps, from image selection to the counting of particular events per nucleus. Here we describe "synapsis," a bioconductor package, which includes a set of functions to automate the process of identifying meiotic nuclei and quantifying key double-strand break formation and repair events in a rapid, scalable, and reproducible workflow, and compare it to manual user quantification.
View Article and Find Full Text PDFThe Role of SF1 and SF2 Helicases in Biotechnological Applications.
Appl Biochem Biotechnol
December 2024
Dongguan Key Laboratory of Public Health Laboratory Science, School of Public Health, Guangdong Medical University, Dongguan, 523808, People's Republic of China.
Helicases, which utilize ATP hydrolysis to separate nucleic acid duplexes, play crucial roles in DNA and RNA replication, repair, recombination, and transcription. Categorized into the major groups superfamily 1 (SF1) and superfamily 2 (SF2), alongside four minor groups, these proteins exhibit a conserved catalytic core indicative of a shared evolutionary origin while displaying functional diversity through interactions with various substrates. This review summarizes the structures, functions and mechanisms of SF1 and SF2 helicases, with an emphasis on conserved ATPase sites and RecA-like domains essential for their enzymatic and nucleic acid binding capabilities.
View Article and Find Full Text PDFOverexpression of RAD54L attenuates osteoarthritis by suppressing the HIF-1α/VEGF signaling pathway: Bioinformatics analysis and experimental validation.
PLoS One
April 2024
Department of Orthopedics, The Second Affiliated Hospital of Nanchang University, Donghu District, Nanchang City, Jiangxi Province, China.
Osteoarthritis (OA) is a widespread chronic, progressive, degenerative joint disease that causes pain and disability. Current treatments for OA have limited effectiveness and new biomarkers need to be identified. Bioinformatics analysis was conducted to explore differentially expressed genes and DNA repair/recombination protein 54 L (RAD54L) was selected.
View Article and Find Full Text PDFFluorescent human RPA to track assembly dynamics on DNA.
Methods
March 2024
Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, St. Louis, MO 63104, USA. Electronic address:
DNA metabolic processes including replication, repair, recombination, and telomere maintenance occur on single-stranded DNA (ssDNA). In each of these complex processes, dozens of proteins function together on the ssDNA template. However, when double-stranded DNA is unwound, the transiently open ssDNA is protected and coated by the high affinity heterotrimeric ssDNA binding Replication Protein A (RPA).
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